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Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions.

Abstract
The neuronal ceroid lipofuscinoses, collectively the most common neurodegenerative disorders of childhood, are primarily caused by an autosomal recessive genetic mutation leading to a lysosomal storage disease. Clinically, these diseases manifest at varying ages of onset, and associated symptoms include cognitive decline, movement disorders, seizures, and retinopathy. The underlying cell biology and biochemistry that cause the clinical phenotypes of neuronal ceroid lipofuscinoses are still being elaborated. The 2012 Neurobiology of Disease in Children Symposium, held in conjunction with the 41st Annual Meeting of the Child Neurology Society, aimed to (1) provide a survey of the currently accepted forms of neuronal ceroid lipofuscinoses and their associated genetic mutations and clinical phenotypes; (2) highlight the specific pathology of Batten disease; (3) discuss the contemporary understanding of the molecular mechanisms that lead to pathology; and (4) introduce strategies that are being translated from bench to bedside as potential therapeutics.
AuthorsSarah-Bianca Dolisca, Mitali Mehta, David A Pearce, Jonathan W Mink, Bernard L Maria
JournalJournal of child neurology (J Child Neurol) Vol. 28 Issue 9 Pg. 1074-100 (Sep 2013) ISSN: 1708-8283 [Electronic] United States
PMID23838031 (Publication Type: Journal Article)
Topics
  • Animals
  • Disease Models, Animal
  • Humans
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses (genetics, pathology, therapy)
  • Phenotype
  • Translational Research, Biomedical (trends)

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